Summaries for Oculopharyngeal Muscular Dystrophy

Genetics Home Reference
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Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to impair vision, and in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing (dysphagia). Dysphagia begins with dry food, but over time, liquids can also become difficult to swallow. Dysphagia can cause saliva to accumulate and a wet-sounding voice. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition, choking, or a bacterial lung infection called aspiration pneumonia.

MalaCards based summary
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Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to muscular dystrophy and dysphagia, and has symptoms including facial paresis An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways/superpathways are mRNA surveillance pathway and Glucose metabolism. The drugs Ethanol and Capsaicin have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and lung, and related phenotypes are ptosis and myopathy

NIH Rare Diseases
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Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by slowly progressing muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Onset is typically during adulthood, most often between 40 and 60 years of age. Symptoms may include: eyelid drooping (ptosis), arm and leg weakness, and difficulty swallowing (dysphagia). There are two types of OPMD, distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types. Both types are caused by mutations in the PABPN1 gene.Treatment depends on the signs and symptoms present in each individual. Ptosis and dysphagia can be managed with surgery; however, recurrence of symptoms commonly occurs 5-15 years after intervention.